Variant report

Variant	nsv570468
Chromosome Location	chr15:92578057-92579182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92578004..92579721-chr15:92585811..92587645,2	K562	blood:
2	chr15:92574683..92576781-chr15:92577494..92579219,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28656147	chr15:92578057-92578058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28538166	chr15:92578063-92578064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532663644	chr15:92578100-92578101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76395857	chr15:92578101-92578102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28502579	chr15:92578109-92578110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534731968	chr15:92578119-92578120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557710431	chr15:92578171-92578172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578084533	chr15:92578211-92578212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537141876	chr15:92578243-92578244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188576026	chr15:92578269-92578270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574100837	chr15:92578296-92578297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34617575	chr15:92578302-92578303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368729110	chr15:92578312-92578313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560050952	chr15:92578321-92578322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573560516	chr15:92578323-92578324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372630389	chr15:92578373-92578374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374978425	chr15:92578379-92578380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8036996	chr15:92578413-92578414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541053579	chr15:92578442-92578443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564066476	chr15:92578541-92578542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569281918	chr15:92578580-92578581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536231446	chr15:92578583-92578584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533088402	chr15:92578602-92578603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543110510	chr15:92578603-92578604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554915094	chr15:92578616-92578617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567124552	chr15:92578678-92578679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563520446	chr15:92578682-92578683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529045865	chr15:92578712-92578713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548752652	chr15:92578717-92578718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565668050	chr15:92578722-92578723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75993202	chr15:92578790-92578791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73536134	chr15:92578818-92578819	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs28360724	chr15:92578836-92578837	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369133822	chr15:92578843-92578844	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373979110	chr15:92578864-92578865	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534558412	chr15:92578871-92578872	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs8041844	chr15:92578967-92578968	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557149589	chr15:92578977-92578978	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373431477	chr15:92579057-92579058	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577404716	chr15:92579116-92579117	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544748034	chr15:92579164-92579165	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191974880	chr15:92579174-92579175	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92572200-92581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:92573800-92579400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr15:92574200-92580600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:92574200-92585800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:92574600-92579400	Enhancers	Left Ventricle	heart
6	chr15:92574800-92580600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:92574800-92585800	Weak transcription	Pancreas	Pancrea
8	chr15:92575000-92580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:92575000-92580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:92575000-92580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:92575200-92578200	Enhancers	Right Ventricle	heart
12	chr15:92575400-92580400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:92575400-92580800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:92575600-92584000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:92575800-92584400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:92576000-92583800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:92576400-92578200	Enhancers	Fetal Heart	heart
18	chr15:92576800-92580000	Weak transcription	Adipose Nuclei	Adipose
19	chr15:92576800-92580200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:92577000-92578200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:92577000-92579000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:92577000-92580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:92577000-92586600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:92577200-92578400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:92577200-92578800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:92577200-92580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:92577400-92578200	Enhancers	Colonic Mucosa	Colon
28	chr15:92577400-92580800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:92577400-92584400	Weak transcription	Brain Anterior Caudate	brain
30	chr15:92577600-92578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:92577800-92578800	Weak transcription	Brain Substantia Nigra	brain
32	chr15:92577800-92579000	Weak transcription	Ovary	ovary
33	chr15:92578000-92578800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:92578000-92579000	Weak transcription	Brain Angular Gyrus	brain
35	chr15:92578000-92579000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:92578000-92579000	Weak transcription	Lung	lung
37	chr15:92578000-92580600	Weak transcription	Aorta	Aorta
38	chr15:92578000-92583800	Weak transcription	Esophagus	oesophagus
39	chr15:92578000-92583800	Weak transcription	Right Atrium	heart
40	chr15:92578000-92584800	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:92578000-92585600	Weak transcription	Spleen	Spleen
42	chr15:92578200-92578600	Weak transcription	Right Ventricle	heart
43	chr15:92578200-92579400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:92578200-92583800	Weak transcription	Fetal Heart	heart
45	chr15:92578400-92578600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:92578600-92579200	Enhancers	Right Ventricle	heart
47	chr15:92578800-92579000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr15:92578800-92579200	Enhancers	Brain Substantia Nigra	brain
49	chr15:92578800-92579400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:92578800-92581400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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